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Ashkenazi Jewish Screening Panel

Alternate test name

Includes: Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia, Mucolipidosis IV, Niemann-Pick disease,Tay-Sachs disease

Gene name / Alternate gene name
  • BLM
  • ASPA
  • MCOLN1
  • SMPD1
  • HEXA
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Targeted analysis of recurrent mutations
Expected turn-around time
Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA

For details about specimen requirements, please refer to Specimen Type & Requirements (PDF).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);

  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)

Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

The Ashkenazi Jewish screening panel currently consists of testing for seven diseases common in the Ashkenazi Jewish population: Bloom syndrome (BLM), Canavan disease (CVN), Familial dysautonomia (FD), Fanconi anemia group C (FA-C), mucolipidosis type IV (MLP4), Niemann Pick disease type A & B (NP) and Tay-Sachs (TSD) disease. Although these conditions have been reported in individuals of various ethnic backgrounds, these diseases occur most frequently in people of Ashkenazi Jewish ancestry. These conditions present when a child receives two copies of an altered gene, one from each parent. Any person with one copy of an altered gene is a carrier of that disease. Carriers are not affected themselves and will not develop the disease. However, if their partner is also a carrier for the same disease, there is a one in four chance (25%) that their baby will be born with the disease condition. There is a three in four chance (75%) that their baby will not have the disease condition.

See related information sheet Ashkenazi Jewish Screening Panel

Disease condition


  • Bloom syndrome
  • Canavan disease
  • Familial Dysautonomia
  • Fanconi Anemia
  • Mucolipidosis IV
  • Niemann-Pick disease
  • Tay-Sachs disease
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